Incidental Mutation 'IGL01063:Kcnq2'
ID |
50383 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnq2
|
Ensembl Gene |
ENSMUSG00000016346 |
Gene Name |
potassium voltage-gated channel, subfamily Q, member 2 |
Synonyms |
Nmf134, KQT2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01063
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 180751582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000103051]
[ENSMUST00000197015]
[ENSMUST00000129695]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016491
|
SMART Domains |
Protein: ENSMUSP00000016491 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
7.3e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
595 |
2e-59 |
PFAM |
Pfam:KCNQ_channel
|
593 |
673 |
1.7e-22 |
PFAM |
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049792
|
SMART Domains |
Protein: ENSMUSP00000052453 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
7.2e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
565 |
3.1e-55 |
PFAM |
Pfam:KCNQ_channel
|
587 |
668 |
6.8e-23 |
PFAM |
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081528
|
SMART Domains |
Protein: ENSMUSP00000080243 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
4.3e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
1.7e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
564 |
2.3e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103047
|
SMART Domains |
Protein: ENSMUSP00000099336 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
7.1e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
Pfam:KCNQ_channel
|
424 |
583 |
2e-59 |
PFAM |
Pfam:KCNQ_channel
|
581 |
661 |
1.7e-22 |
PFAM |
low complexity region
|
699 |
711 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103048
|
SMART Domains |
Protein: ENSMUSP00000099337 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
6.7e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.4e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
637 |
1.3e-82 |
PFAM |
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103049
|
SMART Domains |
Protein: ENSMUSP00000099338 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
35 |
268 |
3.7e-32 |
PFAM |
Pfam:Ion_trans_2
|
181 |
261 |
1.1e-14 |
PFAM |
Pfam:KCNQ_channel
|
392 |
584 |
1e-92 |
PFAM |
Pfam:KCNQ2_u3
|
591 |
679 |
3.9e-39 |
PFAM |
Pfam:KCNQC3-Ank-G_bd
|
692 |
791 |
1.1e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103050
|
SMART Domains |
Protein: ENSMUSP00000099339 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149964
|
SMART Domains |
Protein: ENSMUSP00000122915 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
91 |
324 |
4.4e-32 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
1.3e-14 |
PFAM |
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
Pfam:KCNQ_channel
|
466 |
659 |
6.2e-94 |
PFAM |
Pfam:KCNQ2_u3
|
666 |
754 |
4.5e-39 |
PFAM |
Pfam:KCNQC3-Ank-G_bd
|
767 |
866 |
1.2e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129073
|
SMART Domains |
Protein: ENSMUSP00000127061 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
1e-28 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
3.4e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
565 |
3e-55 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154164
|
SMART Domains |
Protein: ENSMUSP00000131544 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
1.4e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
7.8e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103051
|
SMART Domains |
Protein: ENSMUSP00000099340 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
8.9e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
Pfam:KCNQ_channel
|
446 |
647 |
1.7e-82 |
PFAM |
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
Pfam:KCNQC3-Ank-G_bd
|
747 |
849 |
1.7e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144592
|
SMART Domains |
Protein: ENSMUSP00000133237 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
5.6e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.2e-14 |
PFAM |
low complexity region
|
398 |
415 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129361
|
SMART Domains |
Protein: ENSMUSP00000131756 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
310 |
7.6e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
311 |
2.9e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197015
|
SMART Domains |
Protein: ENSMUSP00000143263 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129695
|
SMART Domains |
Protein: ENSMUSP00000123488 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
14 |
198 |
6.8e-29 |
PFAM |
Pfam:Ion_trans_2
|
123 |
203 |
2.4e-14 |
PFAM |
Pfam:KCNQ_channel
|
320 |
521 |
1.3e-82 |
PFAM |
low complexity region
|
559 |
571 |
N/A |
INTRINSIC |
Pfam:KCNQC3-Ank-G_bd
|
621 |
723 |
1.3e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139458
|
SMART Domains |
Protein: ENSMUSP00000130633 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
91 |
324 |
2.6e-32 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
9.7e-15 |
PFAM |
low complexity region
|
408 |
425 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123336
|
SMART Domains |
Protein: ENSMUSP00000130700 Gene: ENSMUSG00000016346
Domain | Start | End | E-Value | Type |
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
128 |
312 |
2.2e-30 |
PFAM |
Pfam:Ion_trans_2
|
237 |
317 |
1.6e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140789
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197599
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
4930444P10Rik |
A |
T |
1: 16,148,870 (GRCm39) |
L61* |
probably null |
Het |
Abca7 |
T |
C |
10: 79,847,131 (GRCm39) |
I1705T |
probably damaging |
Het |
Ablim1 |
T |
A |
19: 57,049,760 (GRCm39) |
I393F |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,722 (GRCm39) |
L145P |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,846,310 (GRCm39) |
I537T |
probably damaging |
Het |
AU018091 |
T |
C |
7: 3,212,153 (GRCm39) |
I190V |
possibly damaging |
Het |
Camk1 |
T |
A |
6: 113,315,333 (GRCm39) |
D155V |
probably damaging |
Het |
Cdh6 |
A |
C |
15: 13,064,581 (GRCm39) |
I103S |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,072,614 (GRCm39) |
D537G |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,730,054 (GRCm39) |
K1144E |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,021,929 (GRCm39) |
E71D |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,234,325 (GRCm39) |
L904P |
possibly damaging |
Het |
Cyfip1 |
T |
A |
7: 55,553,958 (GRCm39) |
F700I |
probably damaging |
Het |
Dmp1 |
G |
A |
5: 104,354,965 (GRCm39) |
M1I |
probably null |
Het |
Efcab6 |
A |
T |
15: 83,938,713 (GRCm39) |
M1K |
probably null |
Het |
Extl2 |
A |
T |
3: 115,821,131 (GRCm39) |
H312L |
possibly damaging |
Het |
Fat4 |
C |
A |
3: 38,944,728 (GRCm39) |
A1207D |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,926,518 (GRCm38) |
|
probably benign |
Het |
Hdac10 |
G |
T |
15: 89,008,071 (GRCm39) |
A593E |
possibly damaging |
Het |
Hdhd2 |
T |
C |
18: 77,052,969 (GRCm39) |
|
probably null |
Het |
Kdm7a |
A |
G |
6: 39,142,064 (GRCm39) |
F405L |
probably damaging |
Het |
Lypd6b |
C |
A |
2: 49,833,642 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,296,651 (GRCm39) |
D2794E |
possibly damaging |
Het |
Mtmr14 |
T |
A |
6: 113,243,287 (GRCm39) |
F40I |
probably damaging |
Het |
Or2y3 |
G |
T |
17: 38,393,544 (GRCm39) |
S108R |
possibly damaging |
Het |
Or5p55 |
A |
T |
7: 107,566,741 (GRCm39) |
I46F |
probably damaging |
Het |
Or6d13 |
T |
A |
6: 116,517,968 (GRCm39) |
C185S |
probably damaging |
Het |
Or6x1 |
A |
T |
9: 40,099,052 (GRCm39) |
I214F |
probably benign |
Het |
Ppargc1a |
C |
A |
5: 51,631,664 (GRCm39) |
V322L |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,931,195 (GRCm39) |
M917K |
probably benign |
Het |
Prkg2 |
C |
T |
5: 99,117,795 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,704,246 (GRCm39) |
E296G |
possibly damaging |
Het |
Rfx8 |
T |
A |
1: 39,722,110 (GRCm39) |
K292* |
probably null |
Het |
Scamp3 |
C |
A |
3: 89,084,973 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,221,190 (GRCm39) |
I823N |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,721,668 (GRCm39) |
V1316A |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Stard8 |
G |
T |
X: 98,116,694 (GRCm39) |
R983L |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 57,013,038 (GRCm39) |
D311E |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,245,592 (GRCm39) |
H568R |
probably benign |
Het |
Tex35 |
T |
C |
1: 156,932,667 (GRCm39) |
|
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,591,292 (GRCm39) |
F442I |
possibly damaging |
Het |
Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
Trim56 |
A |
T |
5: 137,143,354 (GRCm39) |
V54D |
possibly damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,454 (GRCm39) |
C577S |
probably damaging |
Het |
|
Other mutations in Kcnq2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02064:Kcnq2
|
APN |
2 |
180,750,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Kcnq2
|
APN |
2 |
180,723,508 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02261:Kcnq2
|
APN |
2 |
180,723,483 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02510:Kcnq2
|
APN |
2 |
180,723,154 (GRCm39) |
missense |
probably benign |
|
IGL02583:Kcnq2
|
APN |
2 |
180,723,295 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02627:Kcnq2
|
APN |
2 |
180,724,120 (GRCm39) |
unclassified |
probably benign |
|
IGL03303:Kcnq2
|
APN |
2 |
180,724,182 (GRCm39) |
missense |
probably benign |
|
R0269:Kcnq2
|
UTSW |
2 |
180,738,767 (GRCm39) |
missense |
probably benign |
0.00 |
R1535:Kcnq2
|
UTSW |
2 |
180,776,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Kcnq2
|
UTSW |
2 |
180,728,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Kcnq2
|
UTSW |
2 |
180,742,350 (GRCm39) |
missense |
probably benign |
0.01 |
R1946:Kcnq2
|
UTSW |
2 |
180,730,244 (GRCm39) |
missense |
probably benign |
0.09 |
R2105:Kcnq2
|
UTSW |
2 |
180,723,145 (GRCm39) |
missense |
probably benign |
0.03 |
R2382:Kcnq2
|
UTSW |
2 |
180,753,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R2912:Kcnq2
|
UTSW |
2 |
180,723,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Kcnq2
|
UTSW |
2 |
180,746,693 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3898:Kcnq2
|
UTSW |
2 |
180,751,479 (GRCm39) |
missense |
probably damaging |
0.97 |
R4282:Kcnq2
|
UTSW |
2 |
180,722,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Kcnq2
|
UTSW |
2 |
180,728,766 (GRCm39) |
missense |
probably damaging |
0.96 |
R4962:Kcnq2
|
UTSW |
2 |
180,753,836 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5055:Kcnq2
|
UTSW |
2 |
180,728,554 (GRCm39) |
intron |
probably benign |
|
R5107:Kcnq2
|
UTSW |
2 |
180,750,340 (GRCm39) |
intron |
probably benign |
|
R5371:Kcnq2
|
UTSW |
2 |
180,776,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:Kcnq2
|
UTSW |
2 |
180,776,690 (GRCm39) |
missense |
probably benign |
0.07 |
R5839:Kcnq2
|
UTSW |
2 |
180,751,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5998:Kcnq2
|
UTSW |
2 |
180,728,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Kcnq2
|
UTSW |
2 |
180,729,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6207:Kcnq2
|
UTSW |
2 |
180,755,026 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6744:Kcnq2
|
UTSW |
2 |
180,727,099 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7018:Kcnq2
|
UTSW |
2 |
180,723,517 (GRCm39) |
nonsense |
probably null |
|
R7266:Kcnq2
|
UTSW |
2 |
180,776,885 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
R7291:Kcnq2
|
UTSW |
2 |
180,730,172 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7319:Kcnq2
|
UTSW |
2 |
180,750,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Kcnq2
|
UTSW |
2 |
180,754,887 (GRCm39) |
missense |
probably damaging |
0.97 |
R7573:Kcnq2
|
UTSW |
2 |
180,723,382 (GRCm39) |
missense |
probably benign |
0.04 |
R7897:Kcnq2
|
UTSW |
2 |
180,722,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Kcnq2
|
UTSW |
2 |
180,724,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Kcnq2
|
UTSW |
2 |
180,751,562 (GRCm39) |
missense |
probably damaging |
0.97 |
R9394:Kcnq2
|
UTSW |
2 |
180,724,217 (GRCm39) |
missense |
probably benign |
|
R9516:Kcnq2
|
UTSW |
2 |
180,776,753 (GRCm39) |
missense |
probably benign |
0.00 |
R9544:Kcnq2
|
UTSW |
2 |
180,729,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R9592:Kcnq2
|
UTSW |
2 |
180,728,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |